Canonical Allele Identifier: CA7789095
Community Standard Title: NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.722942G>A , CM000678.2:g.722942G>A GRCh38
NC_000016.9:g.772942G>A , CM000678.1:g.772942G>A GRCh37
NC_000016.8:g.712943G>A NCBI36
NG_032932.1:g.8532C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378030.1:c.1281C>T (CCDC78) MANE Select NP_001364959.1:p.Tyr427=
ENST00000345165.10:c.1281C>T (CCDC78) MANE Select ENSP00000316851.5:p.Tyr427=
NM_001031737.2:c.1277C>T (CCDC78) NP_001026907.2:p.Thr426Met
NM_001031737.3:c.1277C>T (CCDC78) NP_001026907.2:p.Thr426Met
NM_001378031.1:c.1101C>T (CCDC78) NP_001364960.1:p.Tyr367=
NM_001378033.1:c.714C>T (CCDC78) NP_001364962.1:p.Tyr238=
NR_165382.1:n.1910C>T (CCDC78)
NR_165383.1:n.1484C>T (CCDC78)
NR_165384.1:n.1449C>T (CCDC78)
NR_165385.1:n.1549C>T (CCDC78)
NR_165386.1:n.1616C>T (CCDC78)
ENST00000293889.10:c.1277C>T (CCDC78) ENSP00000293889.6:p.Thr426Met
ENST00000345165.8:c.827C>T (CCDC78)
ENST00000463539.5:n.1603C>T (CCDC78)
ENST00000466708.5:n.1625C>T (CCDC78)
ENST00000478979.5:n.2695C>T (CCDC78)
ENST00000481804.5:n.3026C>T (CCDC78)
ENST00000482152.1:n.714C>T (CCDC78)
ENST00000482878.5:n.3098C>T (CCDC78)
ENST00000485091.5:n.1506C>T (CCDC78)
ENST00000620831.4:c.-49-39690G>A (MSLN) ENSP00000482893.1:n.-49-39690G>A
ENST00000682391.1:n.1849C>T (CCDC78)
XM_006720838.1:c.1575C>T (CCDC78) XP_006720901.1:p.Tyr525=
XM_006720843.2:c.1353C>T (CCDC78) XP_006720906.1:p.Tyr451=
XM_006720843.4:c.1353C>T (CCDC78) XP_006720906.1:p.Tyr451=
XM_011522356.1:c.1800C>T (CCDC78) XP_011520658.1:p.Tyr600=
XM_011522357.1:c.1788C>T (CCDC78) XP_011520659.1:p.Tyr596=
XM_011522358.1:c.1796+4C>T (CCDC78) XP_011520660.1:n.1796+4C>T
XM_011522358.2:c.1796+4C>T (CCDC78) XP_011520660.1:n.1796+4C>T
XM_011522359.1:c.1767C>T (CCDC78) XP_011520661.1:p.Tyr589=
XM_011522360.1:c.1755C>T (CCDC78) XP_011520662.1:p.Tyr585=
XM_011522361.1:c.1728C>T (CCDC78) XP_011520663.1:p.Tyr576=
XM_011522362.1:c.1724C>T (CCDC78) XP_011520664.1:p.Thr575Met
XM_011522363.1:c.1724C>T (CCDC78) XP_011520665.1:p.Thr575Met
XM_011522364.1:c.1720+4C>T (CCDC78) XP_011520666.1:n.1720+4C>T
XM_011522365.1:c.1587C>T (CCDC78) XP_011520667.1:p.Tyr529=
XM_011522366.1:c.1578C>T (CCDC78) XP_011520668.1:p.Tyr526=
XM_011522367.1:c.1419C>T (CCDC78) XP_011520669.1:p.Tyr473=
XM_011522368.1:c.1407C>T (CCDC78) XP_011520670.1:p.Tyr469=
XM_011522369.1:c.1365C>T (CCDC78) XP_011520671.1:p.Tyr455=
XM_011522370.1:c.1197C>T (CCDC78) XP_011520672.1:p.Tyr399=
XM_011522371.1:c.912C>T (CCDC78) XP_011520673.1:p.Tyr304=
XM_011522371.2:c.912C>T (CCDC78) XP_011520673.1:p.Tyr304=
XM_017022929.1:c.1724+4C>T (CCDC78) XP_016878418.1:n.1724+4C>T
XM_017022930.1:c.900C>T (CCDC78) XP_016878419.1:p.Tyr300=
XM_017022931.1:c.723C>T (CCDC78) XP_016878420.1:p.Tyr241=
XM_024450150.1:c.558C>T (CCDC78) XP_024305918.1:p.Tyr186=
XR_001751835.1:n.2067C>T (CCDC78)
XR_001751836.1:n.2046C>T (CCDC78)
XR_001751837.1:n.1824C>T (CCDC78)
XR_001751838.1:n.2170C>T (CCDC78)
XR_001751839.1:n.1632C>T (CCDC78)